Dean Suhr, President and Co-Founder of the MLD Foundation, gives an overview of metachromatic leukodystrophy (MLD).
As Mr. Suhr explains, MLD is a lysosomal storage disorder caused by arylsulfatase A (ARSA) deficiency. It is characterized by the accumulation of sulfatides in cells which largely affects myelin producing cells. This leads to the progressive destruction of white matter throughout the nervous system. Affected individuals show progressive deterioration of cognitive ability, motor, and sensory functions. Eventually, they lose awareness of their surroundings and become unresponsive. Without treatment, the disease is fatal after a few years. Currently, there is no approved treatment.
Mr. Suhr also describes how MLD is most often diagnosed. Genomic testing is an option but is expensive and complicated due to the large number of possible mutations that can cause MLD. The easiest and most common way to diagnose MLD is through a blood and urinary sulfatides test. Unfortunately, patients are usually symptomatic by the time diagnosis occurs at which point irreversible neurological damage has occurred.
To learn more about MLD and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/